Dhibaatooyinka dhalashada ee madaxa, wajiga, iyo cagaha
Cudurka Jackson-Weiss waa cudur hiddesid ah oo sababay isbeddellada ku yimaada hiddaha FGFR2 ee koromosoom 10. Wuxuu keenaa cilado dhalasho oo kala duwan madaxa, wejiga, iyo cagaha. Lama garanayo inta jeer ee Jackson-Weiss syndrome dhacdo, laakiin qaar ka mid ah shakhsiyaadka ayaa ah kuwa ugu horreeya ee qoysaskoodu ay qabaan cudurka, halka kuwa kale ay dhaxlaan isbeddellada hidde-wade ee habka autosomal dominance .
Astaamaha
Marka dhalashada, lafaha miskaha lama wadaago; Waxay xiranyihiin marka ilmuhu sii korayo. Jirada Jackson-Weiss syndrome, lafaha misigta ayaa isku dhafan (feylo) horayba. Tan waxaa loo yaqaan "craniosynostosis." Sababtaas awgeed:
- dhakada miskaha
- indhaha fidsan
- wejigooda
- si aan caadi ahayn ah u degan, aan hoos udhacnayn aagga dhexe ee wejiga (hypoplasia bartamaha)
Koox kale oo ka mid ah cilladaha dhalashada ee Jackson-Weiss syndrome ayaa ku jira cagaha:
- suulasha waaweyn waa gaaban oo ballaaran
- kabaha waaweyn ee lugaha ayaa sidoo kale ka leexiya faraska kale
- lafaha suulasha qaarkood waa la isku duubi karaa (oo loo yaqaan "syndactyly") ama aan caadi ahayn
Shakhsiyaadka qaba Jackson-Weiss syndrome caadi ahaan waxay leeyihiin caadiyo caadi ah, sirdoon caadi ah, iyo nolol caadi ah.
Ciladeynta
Ciladda 'Jackson-Weiss Syndrome' waxay ku saleysantahay cilladaha dhalashada ee joogtada ah. Waxaa jira calaamado kale oo ay ka mid yihiin craniosynostosis, sida Crouzon syndrome ama Apert syndrome, laakiin cilladaha aan caadiga ahayn ayaa ka caawiya calaamadaha Jackson-Weiss syndrome.
Haddii shaki uu jiro, baaritaan hiddesid ayaa la sameyn karaa si loo xaqiijiyo xaqiijinta cudurka.
Daaweynta
Qaar ka mid ah cilladaha dhalashada ee ku jira Jackson-Weiss syndrome ayaa lagu saxi karaa ama yareyn karaa qalliin. Daaweynta craniosynostosis iyo waji-celinta waji-darrada ah waxaa sida caadiga ah loola dhaqmaa dhakhaatiirta iyo daaweeyeyaasha kuwaas oo ku takhasusay cudurrada madaxa iyo qoorta (khabiirada kiliinikada).
Kooxahan takhasuska ah badanaaba waxay ka shaqeeyaan xarun khaas ah oo lagu magacaabo craniofacial ama clinic. Ururka Qaran ee Xoogaandhiga Qaranka wuxuu leeyahay macluumaadka xiriirka kooxaha kooxaha caafimaadka iyo sidoo kale bixinta taageero lacageed oo loogu talagalay qarashyada aan macaamiisha ahayn ee u safraya xarun daaweyneed.
Ilaha:
> Wulfsberg, Eric. "Jackson-Weiss Syndrome." Waxbarashada Qoyska CCDD. 26 Jan 2004. Johns Hopkins Daaweynta.
> "Jackson-Weiss Syndrome." Index of Cudurrada Rare. Urur Qaran ee Cudurka Naafada.
> "Jackson-Weiss Syndrome." Tixraaca Guud ee Hoyga. 2 Maajo 2008. Maktabadda Qaranka ee Dawada ee Maraykanka.
> Van Buggenhout, G., & JP Fryns. "Jackson-Weiss Syndrome." Bishii Luulyo 2005. Ansixinta Orphanetka.